Increased bone turnover, osteoporosis, progressive tibial bowing, fractures, and scoliosis in a patient with a final‐exon SATB2 frameshift mutation

We report a SATB2 mutation (c.2018dupA; p.(H673fs)) in a 15‐year‐old patient whose SATB2‐associated syndrome phenotype is accompanied by osteoporosis, fractures, progressive tibial bowing, and scoliosis. As this homeodomain‐disrupting and predicted truncating mutation resides within the final exon of SATB2, escape from nonsense‐mediated decay is likely. Thus, we provide further evidence of bone phenotypes beyond those typically associated with SATB2‐associated syndrome in individuals with potential dominant‐negative SATB2 alleles, as well as evidence for age‐dependence of bone features. Elevations in alkaline phosphatase, urinary N‐telopeptide/creatinine ratio, and osteocalcin in the patient indicate increased bone turnover. We propose surveillance and treatment with osteoclast inhibitors to prevent fractures and to slow progressive bone deformities. © 2016 Wiley Periodicals, Inc.

Source: American Journal of Medical Genetics Part A - July 12, 2016 Category: Genetics & Stem Cells Authors: Philip M. Boone, Yiu Man Chan, Jill V. Hunter, Louis E. Pottkotter, Nelson A. Davino, Yaping Yang, Joke Beuten, Carlos A. Bacino Tags: Clinical Report Source Type: research